Developmental Disabilities Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) (Experimental Factor Ontology, EFO_0003852)
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Genes

50 genes associated with the Developmental Disabilities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
APOE apolipoprotein E
AUTS5 Autism, susceptibility to, 5
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CDKL5 cyclin-dependent kinase-like 5
CHRM2 cholinergic receptor, muscarinic 2
CYFIP1 cytoplasmic FMR1 interacting protein 1
DRD4 dopamine receptor D4
EIF4A3 eukaryotic translation initiation factor 4A3
EP300 E1A binding protein p300
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF9 fibroblast growth factor 9
FOXP1 forkhead box P1
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A
GRM7 glutamate receptor, metabotropic 7
HRAS Harvey rat sarcoma viral oncogene homolog
IL6 interleukin 6
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3
KRAS Kirsten rat sarcoma viral oncogene homolog
LGALS8 lectin, galactoside-binding, soluble, 8
LOC349160 uncharacterized LOC349160
MAOA monoamine oxidase A
MAP2K1 mitogen-activated protein kinase kinase 1
MECP2 methyl CpG binding protein 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH11 myosin, heavy chain 11, smooth muscle
NDE1 nudE neurodevelopment protein 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RNPS1 RNA binding protein S1, serine-rich domain
SETBP1 SET binding protein 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMG6 SMG6 nonsense mediated mRNA decay factor
SOS1 son of sevenless homolog 1 (Drosophila)
STX1A syntaxin 1A (brain)
TUBGCP5 tubulin, gamma complex associated protein 5
UPF3A UPF3 regulator of nonsense transcripts homolog A (yeast)
VIP vasoactive intestinal peptide
ZMYND11 zinc finger, MYND-type containing 11